Some Concerns

There were two things that concerned me. First was the overwhelming emphasis on cognition and Alzheimer's disease. This focus was apparent from all angles, including the suggestions received from the Ds community.

Research on improving cognition in people with Down syndrome should be the major focus of the Research Plan – Agreed in part; it is a major focus, but given the other health issues in the Down syndrome population, it is not the sole focus.

The language used in the Congressional Directives highlights how research involving our loved ones is important for reasons other than the health of people with Down syndrome.

FISCAL YEAR 2014 (SENATE REPORT 113-071) Down Syndrome – The Committee applauds NIH for the establishment of the Down Syndrome Patient Registry. The Committee urges continued investment and development of the registry to fully realize its potential as a tool to stimulate meaningful clinical trials and research.The Committee recognizes that investing in Down syndrome-focused research has the potential to benefit many other diseases and conditions such as Alzheimer’s disease. Therefore, the Committee urges NIH to seek public-private partnerships aimed at developing preventive therapies for the dementia associated with both Down syndrome and Alzheimer’s disease.The Committee remains troubled by the stagnant number of investigator-driven research awards given in the area of Down syndrome and supports efforts to increase the Federal investment. The Committee requests a status update in the fiscal year 2015 congressional budget justification. The Committee urges the NIH to continue to utilize the Down Syndrome Consortium as it updates and implements the NIH Down Syndrome Research Plan.

Emphasis mine

Another research goal struck me as troublesome:

Determine whether individuals with cognitive impairment, including those with Down syndrome, could be considered as candidates for organ transplantation. (Status: Yet to begin.)

The way this is worded, it sounds to me like we need research to tell us whether our children should be given life-saving surgery... ???

The Good News

Most of the goals listed pertain to cognition and Alzheimer's (AD) research. While this is extremely important, it is not the only issue of concern. For this summary, I concentrated on those things that were not AD related.

Highlights for parents and caregivers of adults include initiatives to:

create and evaluate new technology,

study the impact of aging on families and caregivers, and

develop the research infrastructure needed to investigate racial disparities in health and survival rates.

Develop and/or adapt assistive devices, such as Global Positioning Systems (GPS) and mobile devices, to facilitate integration of an individual with Down syndrome into the workplace, residential or home environment, and community. (Status: In progress.) As the lifespans of individuals with Down syndrome continue to increase, investigate the impact on families of caring for them as they age. Develop a more complete demographic knowledge base, including factors that may contribute to differential survival rates among racial/ethnic groups, about individuals with Down syndrome. Use population-based data whenever feasible. (Status: In progress) Continue to include cohorts of people with Down syndrome in appropriate longitudinal epidemiologic research and cross-sectional studies, including those investigating the trajectory and risk factors for psychopathology across the lifespan. Work toward the development of an adult cohort of people with Down syndrome in different areas of the United States. (Status: In progress.) Consider ways to include participants with Down syndrome, including those of racial or ethnic minorities, in NIH-funded clinical trials.

The Future of Research

The full report represents a great deal of hard work and determination from numerous professionals. While Ds remains least funded major genetic condition by our National Institutes of Health (NIH) according to the Global Down Syndrome Foundation, it's obvious from this report that there are a lot of people trying to make the most of what they have and encouraging growth in the field.